Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Lisa Dellefave-Castillo"'
Autor:
Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 10 (2024)
Background Many cardiomyopathy‐associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. Methods and Results We
Externí odkaz:
https://doaj.org/article/f77896bb0287466494c3807c1849c7e0
Autor:
Rabia S. Khan, Elfriede Pahl, Lisa Dellefave‐Castillo, Karen Rychlik, Alexander Ing, Kai Lee Yap, Casey Brew, Jamie R. Johnston, Elizabeth M. McNally, Gregory Webster
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 1 (2022)
Background Pediatric dilated cardiomyopathy (DCM) is a well‐known clinical entity; however, phenotype–genotype correlations are inadequately described. Our objective was to provide genotype associations with life‐threatening cardiac outcomes in
Externí odkaz:
https://doaj.org/article/5ce7e75a69514743a4a322366f814c0e
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0150358 (2016)
Latent TGFβ binding proteins are extracellular matrix proteins that bind latent TGFβ to form the large latent complex. Nonsynonymous polymorphisms in LTBP4, a member of the latent TGFβ binding protein gene family, have been linked to several human
Externí odkaz:
https://doaj.org/article/6efaed1d75d144109694107b5491141b
Autor:
Malorie Blancard, K. A Fetterman, Davi M Lyra Leite, Lisa Dellefave-Castillo, Gregory G Webster, Megan Puckelwartz, Elizabeth M McNally, Alfred L George, Paul W Burridge
Publikováno v:
Circulation Research. 131
In older (45+ years) populations, sudden cardiac death (SCD) is primarily caused by ischemic heart disease while in younger populations, SCD is often due to genetic causes. Despite recent advances in risk stratification based on clinical evaluation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::551684fb65410e3e85686538c2d77c2b
https://doi.org/10.1161/res.131.suppl_1.p2118
https://doi.org/10.1161/res.131.suppl_1.p2118
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP
Autor:
Hilary S. McElligott, Aleksandra Laboski, Defne Magnetta, Alfred L. George, Elizabeth M. McNally, Amber E. Kofman, Gregory Webster, Nicoleta C. Arva, Meredith A Reynolds, Lisa Dellefave-Castillo, Megan J. Puckelwartz
Publikováno v:
Am J Med Genet A
Patients with biallelic mutations in the nuclear-encoded mitochondrial gene C1QBP/p32 have been described with syndromic features and autosomal recessive cardiomyopathy. We describe the clinical course in two siblings who developed cardiomyopathy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e50e14fe6155ec92589ff56f4bfb31d
https://doi.org/10.1002/ajmg.a.62262
https://doi.org/10.1002/ajmg.a.62262
Autor:
Alborz Sherafati, Omar Elsekaily, Seyedmohammad Saadatagah, David C. Kochan, Christopher Lee, Georgia L. Wiesner, Cong Liu, Lisa Dellefave-Castillo, Bahram Namjou, Emma F. Perez, Zachary M. Salvati, John J. Connolly, Hakon Hakonarson, Marc S. Williams, Gail P. Jarvik, Wendy K. Chung, Elizabeth M. McNally, Teri A. Manolio, Iftikhar J. Kullo
Publikováno v:
Genet Med
PURPOSE: We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assessed near-term outcomes following return of results. METHODS: Participants (N = 24,520) in phase III of the Electronic Medical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f55c0a92f4670689e748018b798fdd
https://pubmed.ncbi.nlm.nih.gov/35943490
https://pubmed.ncbi.nlm.nih.gov/35943490
Autor:
Lisa Dellefave-Castillo, Allison Cirino, Tom E Callis, Ed Esplin, Kathryn Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert Nussbaum, Elizabeth McNally
Publikováno v:
Circulation. 144
Introduction: Genetic testing for heritable cardiomyopathy and arrhythmia syndromes has evolved rapidly and is now recommended by cardiology professional societies to establish a genetic etiology, guide clinical management, and identify at-risk famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::013c83c23c6937a5f768a2be5db758ac
https://doi.org/10.1161/circ.144.suppl_1.9751
https://doi.org/10.1161/circ.144.suppl_1.9751
Autor:
Juan Pablo Portocarrero, Ahsun Riaz, Andrew W. Hoel, Lisa D. Wilsbacher, Jane DeMatte D′Amico, Lisa Dellefave-Castillo, Anjana V. Yeldandi, James Paparello
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17b13b45e08ba7ac2483239ef5660581
https://doi.org/10.1161/circgen.121.003386
https://doi.org/10.1161/circgen.121.003386
Autor:
Elizabeth M. McNally, Samuel Kearns, Carlos G. Vanoye, Alexander Ing, Ponni Arunkumar, Rachael Olson, Lorenzo L. Pesce, Nora Ibrahim, Casey Brew, Sabah Kadri, Tess D. Pottinger, Franck Potet, Steven K White, Megan J. Puckelwartz, Amber Kofman, Alfred L. George, Gregory Webster, Patrick Page, Lisa Dellefave-Castillo, Kai Lee Yap
Publikováno v:
JAMA Cardiol
Importance Postmortem genetic testing of young individuals with sudden death has previously identified pathogenic gene variants. However, prior studies primarily considered highly penetrant monogenic variants, often without detailed decedent and fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b996eb97991e10b44daf9ccf83ebed
https://europepmc.org/articles/PMC8358810/
https://europepmc.org/articles/PMC8358810/
Autor:
Lorenzo L. Pesce, Samuel Kearns, Jane E. Wilcox, Wenyu Pan, Lisa Dellefave-Castillo, Avery C. Robinson, Thomas P. Cappola, Gerald W. Dorn, Megan J. Puckelwartz, Sharlene M. Day, Euan A. Ashley, Anthony Gacita, Zachary J. Schoppen, Matthew T. Wheeler, Gene Kim, Elizabeth M. McNally, Allen S. Anderson, Tess D. Pottinger
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Inherited cardiomyopathies display variable penetrance and expression, and a component of phenotypic variation is genetically determined. To evaluate the genetic contribution to this variable expression, we compared protein coding variatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88afd5b446fdf0e1052a618885a38407
https://pubmed.ncbi.nlm.nih.gov/33764162
https://pubmed.ncbi.nlm.nih.gov/33764162